Varaico: Literature-Extracted Genetic Variants

PRKAR1A

551 papers

RefSeq Summary

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation...

Pfam Domains

RIIaaa 25–62UCSCRegulatory subunit of type II PKA R-subunit

cNMP_bindingaa 155–238UCSCCyclic nucleotide-binding domain

cNMP_bindingaa 273–360UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

protein kinase cAMP-dependent type I regulatory subunit alpha

HGNC Previous Symbols

PRKAR1; TSE1; PKR1; Prkar1alpha

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_002734.5

p.Q28*

c.82C>T

Surrounding Variants

2 papers

NM_002734.5

p.I27M

c.81T>G

1 paper

NM_002734.5

p.A29_L31delFs

c.87_91del5

2 papers

NM_002734.5

p.A29_K32delFs

c.85_95del11

2 papers

NM_002734.5

p.I27fs

c.79_80fs

1 paper

NM_002734.5

p.A29S

c.85G>T

1 paper

NM_002734.5

p.A29fs

c.85_86fs

1 paper

NM_002734.5

p.I27_Q28delFs

c.80_83del4

1 paper

NM_002734.5

p.A29A

c.87G>A

1 paper

NM_002734.5

p.N26H

c.76A>C

1 paper

NM_002734.5

p.N26_I27delFs

c.78_79delCA

2 papers

NM_002734.5

p.L30fs

c.88_89fs

1 paper

NM_002734.5

p.L30Q

c.89T>A